Showing posts with label monogenic. Show all posts
Showing posts with label monogenic. Show all posts

Saturday, August 5, 2023

The Influence of Genetics on Cystic Fibrosis

 


Cystic fibrosis is a recessive genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene. There is a broad range of the age for the onset of cystic fibrosis. Cystic fibrosis is considered a monogenic disorder. Monogenic means inherited conditions that arise from mutations on a single gene. The picture shown above there are likely major contributions from the non-CFTR gene as well as environmental influences. Cystic fibrosis is one of the most common autosomal recessive disorders for Caucasians and the median age of survival is 39. 

Monday, April 10, 2017

One Gene Can Lead to Obesity

Obesity has become the most common disease known in North America, claiming over 5.3 million people. To be considered obese, this person must get their Body Mass Index (BMI) calculated. Relating height and weight to receive a BMI score of 30 or more obesity causes many other health risks including type 2 diabetes, gallbladder disease, coronary heart disease, cancer, and hypertension. Years of research have been collected, analyzing over 161 papers, Meyre and his colleagues from McMaster University and the University of British Columbia. Finding 79 reported obesity syndromes, 19 have been classified as monogenic that can be found by a simple lab test. 11 others have been partially clarified and 27 have been mapped to a chromosomal region, the remaining 22 syndromes have not been identified to specific genes or chromosomes. 


Understanding the mutations of the genes that cause obesity will help better prepare individuals to prevent an unhealthy living style. The monogenic syndromes reveal that there is 100% chance of becoming obese but it is very rare. Only 0.1% of the obese population is overweight because of one gene. I think that this research will only develop more, the knowledge will help people life better quality lives. A persons genetics tells a lot right now but more that the scientist divulge into the studies more genes will be located and understood.